A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18213134



Internal ID20780174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:122326579..122330142hg38UCSC Ensembl
chr5:121662274..121665837hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg383564
hg193564
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6415136
Supporting Variants
Samples
Known GenesSNCAIP
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18213134
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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